ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.991T>C (p.Leu331=) (rs1063353)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715220 SCV000846048 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117403 SCV000335667 benign not specified 2015-09-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117403 SCV000151602 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000299654 SCV000429298 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356803 SCV000429299 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401209 SCV000429300 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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